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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2000 2
2001 1
2005 1
2006 3
2007 2
2008 1
2009 6
2010 1
2011 1
2012 2
2013 1
2014 1
2015 1
2016 1
2017 1
2018 1
2019 1
2020 3
2021 3
2022 4
2023 4
2024 0

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37 results

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Page 1
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Snijders Blok L, Verseput J, Rots D, Venselaar H, Innes AM, Stumpel C, Õunap K, Reinson K, Seaby EG, McKee S, Burton B, Kim K, van Hagen JM, Waisfisz Q, Joset P, Steindl K, Rauch A, Li D, Zackai EH, Sheppard SE, Keena B, Hakonarson H, Roos A, Kohlschmidt N, Cereda A, Iascone M, Rebessi E, Kernohan KD, Campeau PM, Millan F, Taylor JA, Lochmüller H, Higgs MR, Goula A, Bernhard B, Velasco DJ, Schmanski AA, Stark Z, Gallacher L, Pais L, Marcogliese PC, Yamamoto S, Raun N, Jakub TE, Kramer JM, den Hoed J, Fisher SE, Brunner HG, Kleefstra T. Snijders Blok L, et al. Among authors: kohlschmidt n. HGG Adv. 2022 Nov 1;4(1):100157. doi: 10.1016/j.xhgg.2022.100157. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36408368 Free PMC article.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Among authors: kohlschmidt n. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662 Free PMC article.
Molecular pathophysiology of human MICU1 deficiency.
Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A. Kohlschmidt N, et al. Neuropathol Appl Neurobiol. 2021 Oct;47(6):840-855. doi: 10.1111/nan.12694. Epub 2021 Feb 22. Neuropathol Appl Neurobiol. 2021. PMID: 33428302
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Among authors: kohlschmidt n. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
Mroczek M, Zafeiriou D, Gurgel-Gianetti J, Vilela Morais de Azevedo B, Roos A, Bartels E, Kohlschmidt N, Phadke R, Feng L, Duff J, Töpf A, Straub V. Mroczek M, et al. Among authors: kohlschmidt n. Neuropediatrics. 2021 Oct;52(5):390-393. doi: 10.1055/s-0040-1715625. Epub 2020 Dec 22. Neuropediatrics. 2021. PMID: 33352606
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R. Mingirulli N, et al. Among authors: kohlschmidt n. J Inherit Metab Dis. 2020 Mar;43(2):297-308. doi: 10.1002/jimd.12156. Epub 2019 Aug 13. J Inherit Metab Dis. 2020. PMID: 31339582 Free PMC article.
Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p.
Hallermann C, Mücher G, Kohlschmidt N, Wellek B, Schumacher R, Bahlmann F, Shahidi-Asl P, Theile U, Rudnik-Schöneborn S, Müntefering H, Zerres K. Hallermann C, et al. Among authors: kohlschmidt n. Am J Med Genet. 2000 Jan 17;90(2):115-9. doi: 10.1002/(sici)1096-8628(20000117)90:2<115::aid-ajmg5>3.0.co;2-s. Am J Med Genet. 2000. PMID: 10607948 Review.
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT, Tafazzoli A, Mattern M, Sivalingam S, Wolf S, Rupp A, Thiele H, Altmüller J, Nürnberg P, Ellwanger J, Gambon R, Baumer A, Kohlschmidt N, Metze D, Holdenrieder S, Paus R, Lütjohann D, Frank J, Geyer M, Bertolini M, Kokordelis P, Betz RC. Romano MT, et al. Among authors: kohlschmidt n. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401459 Free PMC article.
37 results